Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state. 22126643 2012
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE Taken together, the coexistence of both homozygous or compound heterozygous SLC4A1 mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis. 18266205 2008
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease LHGDN Taken together, the coexistence of both homozygous or compound heterozygous SLC4A1 mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis. 18266205 2008
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE These point mutations were associated with hemolytic anemia, and it was shown that they confer a cation transport feature to the human AE1. 17554061 2007
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease LHGDN These point mutations were associated with hemolytic anemia, and it was shown that they confer a cation transport feature to the human AE1. 17554061 2007
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease CTD_human Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE These mutations comprise a group almost entirely distinct from the SLC4A1 mutations that underlie the familial hemolytic anemia of hereditary spherocytosis. 15067510 2004
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease BEFREE We have previously characterized twenty AE1 gene defects underlying spherocytic haemolytic anaemia with band 3 deficiency. 9306337 1997
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease HPO